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The Genotype-Phenotype Correlation in Pompe Disease Studied from an Enzymatic and Molecular Perspective: Is de klinische diversiteit van de ziekte van Pompe verklaarbaar op basis van enzymatische en moleculaire karakeristieken? Preview this item
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The Genotype-Phenotype Correlation in Pompe Disease Studied from an Enzymatic and Molecular Perspective: Is de klinische diversiteit van de ziekte van Pompe verklaarbaar op basis van enzymatische en moleculaire karakeristieken?

Author: Monica Martinez
Publisher: Erasmus University Rotterdam 2020-07-07
Edition/Format: Book Book : English
Summary:
textabstractThe findings described in this thesis are a step forward in the diagnosis and understanding of Pompe disease with emphasis on the genotype-phenotype correlation.
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Document Type: Book
All Authors / Contributors: Monica Martinez
ISBN: 978-94-6402-290-2
Language Note: English
Unique Identifier: 8630789220
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Abstract:

textabstractThe findings described in this thesis are a step forward in the diagnosis and understanding of Pompe disease with emphasis on the genotype-phenotype correlation.

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<http:\/\/experiment.worldcat.org\/entity\/work\/data\/10366081844#Agent\/erasmus_university_rotterdam<\/a>> # Erasmus University Rotterdam<\/span>\n\u00A0\u00A0\u00A0\u00A0a \nbgn:Agent<\/a> ;\u00A0\u00A0\u00A0\nschema:name<\/a> \"Erasmus University Rotterdam<\/span>\" ;\u00A0\u00A0\u00A0\u00A0.\n\n\n<\/div>\n
<http:\/\/experiment.worldcat.org\/entity\/work\/data\/10366081844#Person\/martinez_monica<\/a>> # Monica Martinez<\/span>\n\u00A0\u00A0\u00A0\u00A0a \nschema:Person<\/a> ;\u00A0\u00A0\u00A0\nschema:name<\/a> \"Monica Martinez<\/span>\" ;\u00A0\u00A0\u00A0\u00A0.\n\n\n<\/div>\n
<http:\/\/experiment.worldcat.org\/entity\/work\/data\/10366081844#Thing\/clinical_heterogeneity<\/a>> # clinical heterogeneity<\/span>\n\u00A0\u00A0\u00A0\u00A0a \nschema:Thing<\/a> ;\u00A0\u00A0\u00A0\nschema:name<\/a> \"clinical heterogeneity<\/span>\" ;\u00A0\u00A0\u00A0\u00A0.\n\n\n<\/div>\n
<http:\/\/experiment.worldcat.org\/entity\/work\/data\/10366081844#Thing\/deferentially_gene_expression<\/a>> # deferentially gene expression<\/span>\n\u00A0\u00A0\u00A0\u00A0a \nschema:Thing<\/a> ;\u00A0\u00A0\u00A0\nschema:name<\/a> \"deferentially gene expression<\/span>\" ;\u00A0\u00A0\u00A0\u00A0.\n\n\n<\/div>\n
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<http:\/\/experiment.worldcat.org\/entity\/work\/data\/10366081844#Thing\/pompe_disease<\/a>> # Pompe disease<\/span>\n\u00A0\u00A0\u00A0\u00A0a \nschema:Thing<\/a> ;\u00A0\u00A0\u00A0\nschema:name<\/a> \"Pompe disease<\/span>\" ;\u00A0\u00A0\u00A0\u00A0.\n\n\n<\/div>\n
<http:\/\/experiment.worldcat.org\/entity\/work\/data\/10366081844#Thing\/pompe_disease_gaa_variant_database<\/a>> # Pompe disease GAA variant database<\/span>\n\u00A0\u00A0\u00A0\u00A0a \nschema:Thing<\/a> ;\u00A0\u00A0\u00A0\nschema:name<\/a> \"Pompe disease GAA variant database<\/span>\" ;\u00A0\u00A0\u00A0\u00A0.\n\n\n<\/div>\n
<http:\/\/hdl.handle.net\/1765\/128273<\/a>>\u00A0\u00A0\u00A0\nrdfs:comment<\/a> \"NARCIS<\/span>\" ;\u00A0\u00A0\u00A0\u00A0.\n\n\n<\/div>\n
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